Inherited retinal conditions such as Stargardt disease and retinitis pigmentosa (RP) run in families. The diseases in some families span several generations with dozens of affected members. In other cases, a disease may only affect one or more siblings within a single generation. Researchers have understood the nature of these different inheritance patterns fairly well for several decades.

But what has perplexed scientists for a long time is that two family members — for example, brother and sister — can have a retinal disease like RP caused by the same genetic defect, but have very different levels of vision. One sibling may experience little vision loss throughout his or her lifetime (e.g., 80 years) whereas another may be virtually blind by 40 years of age.

While genetic experts have had theories about why this variation is relatively common, Shomi Bhattacharya, Ph.D., professor emeritus at University College London, identified the reason in people with RP caused by mutations in the gene PRPF31 — a reason that is likely to explain at least some of the vision-loss variation for other forms of RP and perhaps other retinal diseases. At VISIONS 2016, FFB’s national conference, the Foundation honored him with its Ed Gollob Board of Directors Award for breakthrough research conducted within the past year.

Dr. Bhattacharya discovered a small piece of code within a region of a gene known as the promoter. In simple terms, genes express proteins, which are essential for the health and function of all cells in the body, including those of the retina. The promoter is like a gene’s gas pedal; it controls how much protein is made.

Dr. Bhattacharya found that in people with RP caused by PRPF31 mutations, vision loss strongly correlated with this small coding sequence in the promoter. Certain sequences led to better gas pedals and, therefore, more protein and better vision. Other sequences led to weaker gas pedals, less protein and worse vision.

This discovery not only leads to a better understanding of vision-loss variation; it might also give researchers new targets for vision-saving treatments.

Over the years, our honoree has had an enormous impact on the retinal-genetics field. During his career, Dr. Bhattacharya has, thus far, identified 25 novel loci and genes for inherited eye diseases, including those for retinitis pigmentosa. These RP genes include: NRL, PRPF31, PRPF3, PRPF8, CRB1, AIPL1, TOPORS, and EYS. I’m sure there are many Foundation supporters, and perhaps readers of this post, who have a retinal disease caused by a mutated gene he helped identify.

You should know that there are three inherited forms of RP: recessive, dominant and X-linked. If you are not sure which type you have, you should ask your ophthalmologist. For information on inheritance types, please see the following web link to download a PDF document on inheritance:http://www.blindness.org/sites/default/files/inheritance_of_retinal_degeneration_-_july_2012.compressed.pdf
You should consider genetic testing to try and identify the mutant gene responsible for causing the disease. If the gene is identified, medical databases such as PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) can be searched to identify any research that is being conducted. With a molecular diagnosis, one may also qualify for gene therapy trials that are taking place. For information on genetic testing, please see the following web link to download a PDF document:http://www.blindness.org/sites/default/files/genetic_testing_booklet_201311rev.pdf
Whether the disease gene is identified or not, one should still consider participating in FFB’s “My Retina Tracker”, a free registry that monitors clinical trials that are recruiting for various retinal diseases. For more information on “My Retina Tracker” please see the following web link:https://www.myretinatracker.org/
It may also be helpful to periodically check the website: http://WWW.CLINICALTRIALS.GOV which is maintained by the National Institutes of Health and contains a searchable list of clinical trials for most known diseases. Each clinical trial listing will provide you with information on what the study is about, the requirements for participating and contact information. Thank you for your support that is helping to accelerate the development of new safe and effective treatments for inherited retinal disease.

My brother 26 years old has RP. He is not under any medication so far. In recent days his vision loss has increased.kindly suggest us a direction we should take.
Is there a treatment to halt his vision loss.

Whether the disease gene is identified or not, one should still consider participating in FFB’s “My Retina Tracker”, a free registry that monitors clinical trials that are recruiting for various retinal diseases. For more information on “My Retina Tracker” please see the following web link:https://www.myretinatracker.org/

It may also be helpful to periodically check the website: http://WWW.CLINICALTRIALS.GOV which is maintained by the National Institutes of Health and contains a searchable list of clinical trials for most known diseases. Each clinical trial listing will provide you with information on what the study is about, the requirements for participating and contact information.

Dear Kevin, If you still have some useful vision left, you should consider genetic testing to try and identify the mutant gene responsible for causing the disease. If the gene is identified, medical databases such as PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) can be searched to identify any research that is being conducted. Also, with a molecular (genetic) diagnosis, you may qualify for gene therapy trials that are taking place. For information on genetic testing, please see the following web link to download a PDF document:http://www.blindness.org/sites/default/files/genetic_testing_booklet_201311rev.pdf
Whether your disease gene is identified or not, you should still consider participating in FFB’s “My Retina Tracker”, a free registry that monitors clinical trials that are recruiting for various retinal diseases. For more information on “My Retina Tracker” please see the following web link:https://www.myretinatracker.org/
You may also find it helpful to periodically check the website: http://WWW.CLINICALTRIALS.GOV which is maintained by the National Institutes of Health and contains a searchable list of clinical trials for most known diseases. Each clinical trial listing will provide you with information on what the study is about, the requirements for participating and contact information. Thank you for your support that is helping to accelerate the development of new safe and effective treatments for inherited retinal disease.

Dear Sir my son has an autosomal recessive RP. We were told that his case is very rare. The DNA analysis revealed two novels, heterozygous EYS sequence variants. The EYS:2461G T (pGly281) and the EYS:c4392_4393del (p.Ala1465Serfs*5) are absent from the EXAC, the 1000 Genome Project, and the Exome Sequencing Project.
My son has another two cousins from his father side who are affected by this Disease. In our village, there is a great prevalence of RP cases. I am aware of at least 11 cases in a population of 14000.
Do you think that this cluster of cases can be examined further by the scientist and help towards finding the cure for RP?

Regular Contributors

Dr. Steve Rose

Steve is highly respected for his expertise and tireless commitment to finding treatments and cures for vision-robbing retinal diseases. Read More...

Ben Shaberman

As the Foundation's Director, Science Communica- tions, Ben writes science and research articles for the Foundation’s website, newsletters and Eye on the Cure blog. Read More...

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